Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families

出版年份 2016 全文链接

标题

作者

关键词

5-oxoprolinuria, Pyroglutamic aciduria, 5-Oxoprolinase, γ-glutamyl cycle, Glutathione synthetase

出版物

Volume 119, Issue 1-2, Pages 44-49

出版商

Elsevier BV

发表日期

2016-07-23

DOI

10.1016/j.ymgme.2016.07.008

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